Joanna Tarasiuk

Increased concentration of the CSF Tau protein and its phosphorylated form in the late juvenile metachromatic leukodystrophy form: a case report

Metachromatic leukodystrophy (MLD) is an autosomal recessive, lysosomal storage disease due to deficiency or absence of arylsulfatase A enzyme (ASA) with sulfatide accumulation in the central and peripheral nervous system, kidneys, and gallbladder, leading to many dysfunctions. One of the clinical forms of the disease is a late juvenile MLD. To our best knowledge, this is the first report describing increased Tau/pTau and normal Aβ1-42 concentrations in the CSF of the late juvenile MLD patient.

Prevalence of multiple sclerosis in Poland

OBJECTIVE The prevalence of multiple sclerosis (MS)was previously unknown in Poland. The aim of this study was to determine the prevalence of MS in Poland. METHODS MS prevalence was determined on the basis of data from the Swietokrzyskie (central Poland) and Podlaskie (northeastern Poland) Voivodeships. The area population on the prevalence study day (December 31, 2013) was 1,268,239 (649,007 women; 619,232 men) in central and 1,195,625 (612,979 women; 582,646 men) in northeastern Poland. RESULTS The overall crude prevalence rate of confirmed MS patients was 109.1/100,000 (95% confidence interval[CI]103.5-115.0) in the Swietokrzyskie and 108.7/100,000 (95% CI 103.0-114.7) in the Podlaskie Voivodeships. A significantly higher prevalence was recorded in females (149.8/100,000, 95% CI 140.6-159.3 vs. 142.4/100,000, 95% CI 133.3-152.0) than in males (66.5/100,000, 95% CI 60.4-73.1 vs.57.8/100,000, 95% CI 52.0-64.2)(p < 0.001). Age-adjusted rates for the Polish Standard Population were the same in both regions (110.3/100,000 (95% CI 104.6-116.1) vs.110.9/100,000 (95% CI 105.1-117.1)) and for the European Standard Population did not different statistically between both voivodeships (103.9/100,000 (95% CI 98.6-109.5) vs.108.5/100,000 (95% CI 102.7-114.5)). CONCLUSION This is the first data that obtained the level of MS prevalence in Poland and confirmed that Poland is a high-risk area for multiple sclerosis.

Pathophysiological implications of actin-free Gc-globulin concentration changes in blood plasma and cerebrospinal fluid collected from patients with Alzheimer’s disease and other neurological disorders

BACKGROUND The extracellular actin scavenging system (EASS) is composed of plasma Gc-globulin and gelsolin, and is responsible for the elimination of toxic actin from the bloodstream. OBJECTIVES In this study, we assessed the actin-free Gc-globulin concentrations in blood plasma and cerebrospinal fluid (CSF) obtained from subjects with neurodegenerative and inflammatory diseases of the central nervous system (CNS) as well as in a control group. MATERIAL AND METHODS Using an enzyme-linked immunosorbent assay (ELISA), we measured the actinfree Gc-globulin concentrations in blood plasma and CSF obtained from subjects diagnosed with Alzheimers disease (AD) (n = 20), amyotrophic lateral sclerosis (ALS) (n = 12), multiple sclerosis (MS) (n = 42), tick-borne encephalitis (TBE) (n = 12), and from a control group (n = 20). RESULTS The concentrations of free Gc-globulin in plasma collected from patients diagnosed with AD (509.6 ±87.6 mg/L) and ALS (455.5 ±99.8 mg/L) did not differ significantly between each other, but were significantly higher compared to the reference group (311.7 ±87.5 mg/L) (p < 0.001 and p < 0.006, respectively) as well as to MS (310.8 ±66.6 mg/L) (p < 0.001 and p < 0.001, respectively) and TBE (256.7 ±76 mg/L) (p < 0.001 and p < 0.003, respectively). In CSF collected from patients diagnosed with AD and ALS, the concentrations of free Gc-globulin were 2.6 ±1.1 mg/L and 2.7 ±1.9 mg/L, respectively. They did not differ significantly between each other and were significantly higher compared to the reference group (1.5 ±0.9 mg/L) (p < 0.005 and p < 0.041, respectively). Interestingly, in patients with AD, significantly higher values of Gcglobulin were detected compared to multiple sclerosis patients (1.7 ±0.9 mg/L) (p < 0.013). CONCLUSIONS Higher concentrations of free Gc-globulin in blood plasma and CSF collected from patients suffering from neurodegenerative diseases may indicate a potential role of this protein in their pathogenesis, and represent a potential tool for the diagnosis of CNS diseases.

Zespół zmęczenia, depresja oraz jakość życia u pacjentów ze stwardnieniem rozsianym

Introduction. Multiple sclerosis is a chronic disease of central nervous system of autoimmunological origin, in which next to an increased physical disability, neuropsychological disorders exist, that lead to significant decrease in patients’ quality of life. Aim. The aim of the study was the assessment of prevalence of fatigue syndrome and depression in patients with multiple sclerosis and their influence on functioning in physical, cognitive and psychosocial dimension as well as on the quality of life. Materials and Methods. 62 patients (37 females and 25 males) with relapsing-remitting subtype of multiple sclerosis and 15 patients with sciatica (9 females and 6 males) as the reference group were included in the study. Prevalence of fatigue syndrome and depression, as well as patients’ quality of life were assessed with use of Modified Fatigue Impact Scale (MFIS), Beck Depression Inventory (BDI) and a standardized instrument for use as a measure of health outcome EQ-5D. Results. Fatigue of moderate intensity was noticed in 45.16% (n=28) of patients with relapsing-remitting subtype of MS, when depression was apparent in 51.61% of patients (n=32), including mild depressive disorders in 33.8% of patients (n=21), moderate in 11.29% of patients and severe in 6.45% (n=4). The obtained results did not reach statistical significance when compared to results obtained in the reference group. Statistically significant dependence between the intensity of depression and influence of fatigue on functioning in psychosocial dimension was mainly observed in the group of patients with multiple sclerosis. Conclusions. Fatigue syndrome and depression occur in significant part of patients with relapsing-remitting subtype of multiple sclerosis, disturbing their functioning in psychosocial dimension and considerably decreasing their quality of life. Increase in fatigue in general dimension has a significantly positive correlation with exacerbation of depression in the group of patients with relapsing-remitting subtype of multiple sclerosis. (JNNN 2017;6(2):81–87)

The most important psychological and psychosocial needs of Polish multiple sclerosis patients and their significant others

Background People with multiple sclerosis (MS) and their relatives often have multiple, complex needs which require support from a wide range of services. The aim of the study, the first of its kind in Poland, was to identify the most important needs of patients with MS and their significant others (SO). Methods A questionnaire developed from focus groups consisting of 20 needs-related statements was administered in seven MS centers to 573 MS patients and 220 SO. The mean age of the patients was 42.61 years old; the mean MS duration was 9.43 years. The respondents were asked to rate the needs statements according to their importance on an 11-point scale. The questionnaire was similar for the MS patients and their SO. Results The most important needs in the patient group were: to feel needed and efficient in life; to have easy access to professional rehabilitation; and to be sure that doctors are interested in my condition. The three most important needs in the SO group were: to know that relatives/friends feel needed and efficient in life; to have good living conditions; and to be sure that doctors are interested in my relative’s/friend’s condition. Correlation analysis revealed that in the patients group, there was a positive correlation between patient’s age and the importance of factors such as the need for support and interest in their disease from the family doctor (P<0.004), receiving educational materials from an MS clinic (P<0.011), interest from the clinic in life issues of the patient (P<0.001), and the need for access to self-rehabilitation (P<0.003); while the need to continue working part-time was inversely correlated with age (P<0.009). Conclusion The needs of the MS patients and SO were similar. The data validate the importance of interdisciplinary care for the MS population.